Browsing HMS Scholarly Articles by Title

Now showing items 6853-6872 of 17922

    • Genetic Risk, Coronary Heart Disease Events, and the Clinical Benefit of Statin Therapy: An Analysis of Primary and Secondary Prevention Trials 

      Mega, Jessica L.; Stitziel, Nathan O.; Smith, J. Gustav; Chasman, Daniel; Caulfield, Mark; Devlin, James J.; Nordio, Francesco; Hyde, Craig L.; Cannon, Christopher; Sacks, Frank; Poulter, Neil; Sever, Peter S.; Ridker, Paul; Braunwald, Eugene; Melander, Olle; Kathiresan, Sekar; Sabatine, Marc (Elsevier BV, 2015-06-06)
      Background Genetic variants have been associated with the risk of coronary heart disease (CHD). We tested whether a composite of these variants could identify the risk of both incident as well as recurrent CHD events and ...

    • A Genetic Screen for Candidate Tumor Suppressors Identifies REST 

      Westbrook, Thomas F.; Martin, Eric S.; Schlabach, Michael R.; Leng, Yumei; Liang, Anthony C.; Feng, Bin; Zhao, Jean J.; Roberts, Thomas M.; Mandel, Gail; Hannon, Gregory J.; DePinho, Ronald A.; Chin, Lynda; Elledge, Stephen (Elsevier BV, 2005-06)
      Tumorigenesis is a multistep process characterized by a myriad of genetic and epigenetic alterations. Identifying the causal perturbations that confer malignant transformation is a central goal in cancer biology. Here we ...

    • A Genetic Screen Identifies an LKB1–MARK Signalling Axis Controlling the Hippo–YAP Pathway 

      Mohseni, Morvarid; Sun, Jianlong; Lau, Allison; Curtis, Stephen; Goldsmith, Jeffrey; Fox, Victor; Wei, Chongjuan; Frazier, Marsha; Samson, Owen; Wong, Kwok-Kim; Kim, Carla; Camargo, Fernando (Springer Nature, 2014-01)
      The Hippo-YAP pathway is an emerging signalling cascade involved in the regulation of stem cell activity and organ size. To identify components of this pathway, we performed an RNAi-based kinome screen in human cells. Our ...

    • A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair 

      Smogorzewska, Agata; Desetty, Rohini; Saito, Takamune; Schlabach, Michael; Lach, Francis P.; Sowa, Mathew E.; Clark, Alan B.; Kunkel, Thomas A.; Harper, Jeffrey Wade; Colaiacovo, Monica P.; Elledge, Stephen J. (Elsevier BV, 2010)
      The Fanconi anemia (FA) pathway is responsible for interstrand crosslink repair. At the heart of this pathway is the FANCI-FAND2 (ID) complex, which, upon ubiquitination by the FA core complex, travels to sites of damage ...

    • Genetic Screening for Signal Transduction in the Era of Network Biology 

      Friedman, Adam; Perrimon, Norbert (Elsevier (Cell Press), 2007)
      In contrast to animal-based mutant phenotype assays, recent biochemical and quantitative genetic studies have identified hundreds of potential regulators of known signaling pathways. We discuss the discrepancy between ...

    • A Genetic Selection for dinB Mutants Reveals an Interaction between DNA Polymerase IV and the Replicative Polymerase That Is Required for Translesion Synthesis 

      Scotland, Michelle K.; Heltzel, Justin M. H.; Kath, James E.; Choi, Jung-Suk; Berdis, Anthony J.; Loparo, Joseph J.; Sutton, Mark D. (Public Library of Science, 2015)
      Translesion DNA synthesis (TLS) by specialized DNA polymerases (Pols) is a conserved mechanism for tolerating replication blocking DNA lesions. The actions of TLS Pols are managed in part by ring-shaped sliding clamp ...

    • Genetic Structure of a Local Population of the Anopheles gambiae Complex in Burkina Faso 

      Markianos, Kyriacos; Bischoff, Emmanuel; Mitri, Christian; Guelbeogo, Wamdaogo M.; Gneme, Awa; Eiglmeier, Karin; Holm, Inge; Sagnon, N’Fale; Vernick, Kenneth D.; Riehle, Michelle M. (Public Library of Science, 2016)
      Members of the Anopheles gambiae species complex are primary vectors of human malaria in Africa. Population heterogeneities for ecological and behavioral attributes expand and stabilize malaria transmission over space and ...

    • Genetic Structure of Chimpanzee Populations 

      Becquet, Celine; Patterson, Nick; Stone, Anne C; Przeworski, Molly; Reich, David Emil (Public Library of Science, 2007)
      Little is known about the history and population structure of our closest living relatives, the chimpanzees, in part because of an extremely poor fossil record. To address this, we report the largest genetic study of the ...

    • Genetic substructure in cynomolgus macaques (Macaca fascicularis) on the island of Mauritius 

      Ogawa, Lisa M; Vallender, Eric J (BioMed Central, 2014)
      Background: Nonhuman primates are commonly used in biomedical research as animal models of human disease and behavior. Compared to common rodent models, nonhuman primates are genetically, physiologically, behaviorally and ...

    • Genetic Susceptible Locus in NOTCH2 Interacts with Arsenic in Drinking Water on Risk of Type 2 Diabetes 

      Pan, Wen-Chi; Kile, Molly L.; Seow, Wei Jie; Lin, Xihong; Quamruzzaman, Quazi; Rahman, Mahmuder; Mahiuddin, Golam; Mostofa, Golam; Lu, Quan; Christiani, David C. (Public Library of Science, 2013)
      Background: Chronic exposure to arsenic in drinking water is associated with increased risk of type 2 diabetes mellitus (T2DM) but the underlying molecular mechanism remains unclear. Objectives: This study evaluated the ...

    • Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing 

      Brown, Elizabeth J.; Pollak, Martin R.; Barua, Moumita (2014)
      The haploid human genome is composed of three billion base pairs, about one percent of which consists of exonic regions, the coding sequence for functional proteins, also now known as the “exome”. The development of ...

    • Genetic topography of brain morphology 

      Chen, Chi-Hua; Fiecas, Mark; Gutiérrez, E. D.; Panizzon, Matthew S.; Eyler, Lisa T.; Vuoksimaa, Eero; Thompson, Wesley K.; Fennema-Notestine, Christine; Hagler, Donald J. Jr.; Jernigan, Terry L.; Neale, Michael C.; Franz, Carol E.; Lyons, Michael J.; Fischl, Bruce; Tsuang, Ming T.; Dale, Anders M.; Kremen, William S. (National Academy of Sciences, 2013)
      Animal data show that cortical development is initially patterned by genetic gradients largely along three orthogonal axes. We previously reported differences in genetic influences on cortical surface area along an ...

    • Genetic tracing of the epithelial lineage during mammalian kidney repair 

      Humphreys, Benjamin D (Nature Publishing Group, 2011)
      Developing new therapeutic approaches to treat acute kidney injury requires a detailed understanding of endogenous cellular repair. Genetic fate mapping defines cellular hierarchies in vivo and we used this technique to ...

    • Genetic Variability in IGF-1 and IGFBP-3 and Body Size in Early Life 

      Poole, Elizabeth M.; Tworoger, Shelley Slate; Hankinson, Susan Elizabeth; Baer, Heather Joanne (BioMed Central, 2012)
      Background: Early life body size and circulating levels of IGF-1 and IGFBP-3 have been linked to increased risks of breast and other cancers, but it is unclear whether these exposures act through a common mechanism. Previous ...

    • Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index 

      Yang, Jian; Bakshi, Andrew; Zhu, Zhihong; Hemani, Gibran; Vinkhuyzen, Anna A.E.; Lee, Sang Hong; Robinson, Matthew R.; Perry, John R.B.; Nolte, Ilja M.; van Vliet-Ostaptchouk, Jana V.; Snieder, Harold; Esko, Tonu; Milani, Lili; Mägi, Reedik; Metspalu, Andres; Hamsten, Anders; Magnusson, Patrik K.E.; Pedersen, Nancy L.; Ingelsson, Erik; Soranzo, Nicole; Keller, Matthew C.; Wray, Naomi R.; Goddard, Michael E.; Visscher, Peter M. (2015)
      We propose a method (GREML-LDMS) to estimate heritability for human complex traits in unrelated individuals using whole-genome sequencing (WGS) data. We demonstrate using simulations based on WGS data that ~97% and ~68% ...

    • Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study 

      Fesinmeyer, Megan D; Meigs, James B; North, Kari E; Schumacher, Fredrick R; Bůžková, Petra; Franceschini, Nora; Haessler, Jeffrey; Goodloe, Robert; Spencer, Kylee L; Voruganti, Venkata Saroja; Howard, Barbara V; Jackson, Rebecca; Kolonel, Laurence N; Liu, Simin; Manson, JoAnn E; Monroe, Kristine R; Mukamal, Kenneth; Dilks, Holli H; Pendergrass, Sarah A; Nato, Andrew; Wan, Peggy; Wilkens, Lynne R; Marchand, Loic Le; Ambite, José Luis; Buyske, Steven; Florez, Jose C; Crawford, Dana C; Hindorff, Lucia A; Haiman, Christopher A; Peters, Ulrike; Pankow, James S (BioMed Central, 2013)
      Background: Multiple genome-wide association studies (GWAS) within European populations have implicated common genetic variants associated with insulin and glucose concentrations. In contrast, few studies have been conducted ...

    • Genetic Variants Associated with Port-Wine Stains 

      Frigerio, Alice; Wright, Karol; Wooderchak-Donahue, Whitney; Tan, Oon T.; Margraf, Rebecca; Stevenson, David A.; Grimmer, J. Fredrik; Bayrak-Toydemir, Pinar (Public Library of Science, 2015)
      Background: Port-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic ...

    • Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses 

      Okbay, Aysu; Baselmans, Bart M.L.; De Neve, Jan-Emmanuel; Turley, Patrick; Nivard, Michel G.; Fontana, Mark Alan; Meddens, S. Fleur W.; Linnér, Richard Karlsson; Rietveld, Cornelius A.; Derringer, Jaime; Gratten, Jacob; Lee, James J.; Liu, Jimmy Z.; de Vlaming, Ronald; Ahluwalia, Tarunveer S.; Buchwald, Jadwiga; Cavadino, Alana; Frazier-Wood, Alexis C.; Furlotte, Nicholas A.; Garfield, Victoria; Geisel, Marie Henrike; Gonzalez, Juan R.; Haitjema, Saskia; Karlsson, Robert; van der Laan, Sander W.; Ladwig, Karl-Heinz; Lahti, Jari; van der Lee, Sven J.; Lind, Penelope A.; Liu, Tian; Matteson, Lindsay; Mihailov, Evelin; Miller, Michael B.; Minica, Camelia C.; Nolte, Ilja M.; Mook-Kanamori, Dennis; van der Most, Peter J.; Oldmeadow, Christopher; Qian, Yong; Raitakari, Olli; Rawal, Rajesh; Realo, Anu; Rueedi, Rico; Schmidt, Börge; Smith, Albert V.; Stergiakouli, Evie; Tanaka, Toshiko; Taylor, Kent; Wedenoja, Juho; Wellmann, Juergen; Westra, Harm-Jan; Willems, Sara M.; Zhao, Wei; Amin, Najaf; Bakshi, Andrew; Boyle, Patricia A.; Cherney, Samantha; Cox, Simon R.; Davies, Gail; Davis, Oliver S.P.; Ding, Jun; Direk, Nese; Eibich, Peter; Emeny, Rebecca T.; Fatemifar, Ghazaleh; Faul, Jessica D.; Ferrucci, Luigi; Forstner, Andreas; Gieger, Christian; Gupta, Richa; Harris, Tamara B.; Harris, Juliette M.; Holliday, Elizabeth G.; Hottenga, Jouke-Jan; De Jager, Philip L.; Kaakinen, Marika A.; Kajantie, Eero; Karhunen, Ville; Kolcic, Ivana; Kumari, Meena; Launer, Lenore J.; Franke, Lude; Li-Gao, Ruifang; Koini, Marisa; Loukola, Anu; Marques-Vidal, Pedro; Montgomery, Grant W.; Mosing, Miriam A.; Paternoster, Lavinia; Pattie, Alison; Petrovic, Katja E.; Pulkki-Råback, Laura; Quaye, Lydia; Räikkönen, Katri; Rudan, Igor; Scott, Rodney J.; Smith, Jennifer A.; Sutin, Angelina R.; Trzaskowski, Maciej; Vinkhuyzen, Anna E.; Yu, Lei; Zabaneh, Delilah; Attia, John R.; Bennett, David A.; Berger, Klaus; Bertram, Lars; Boomsma, Dorret I.; Snieder, Harold; Chang, Shun-Chiao; Cucca, Francesco; Deary, Ian J.; van Duijn, Cornelia M.; Eriksson, Johan G.; Bültmann, Ute; de Geus, Eco J.C.; Groenen, Patrick J.F.; Gudnason, Vilmundur; Hansen, Torben; Hartman, Catharine A.; Haworth, Claire M.A.; Hayward, Caroline; Heath, Andrew C.; Hinds, David A.; Hyppönen, Elina; Iacono, William G.; Järvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L.R.; Keltikangas-Järvinen, Liisa; Kraft, Peter; Kubzansky, Laura D.; Lehtimäki, Terho; Magnusson, Patrik K.E.; Martin, Nicholas G.; McGue, Matt; Metspalu, Andres; Mills, Melinda; de Mutsert, Renée; Oldehinkel, Albertine J.; Pasterkamp, Gerard; Pedersen, Nancy L.; Plomin, Robert; Polasek, Ozren; Power, Christine; Rich, Stephen S.; Rosendaal, Frits R.; den Ruijter, Hester M.; Schlessinger, David; Schmidt, Helena; Svento, Rauli; Schmidt, Reinhold; Alizadeh, Behrooz Z.; Sørensen, Thorkild I.A.; Spector, Tim D.; Steptoe, Andrew; Terracciano, Antonio; Thurik, A. Roy; Timpson, Nicholas J.; Tiemeier, Henning; Uitterlinden, André G.; Vollenweider, Peter; Wagner, Gert G.; Weir, David R.; Yang, Jian; Conley, Dalton C.; Smith, George Davey; Hofman, Albert; Johannesson, Magnus; Laibson, David I.; Medland, Sarah E.; Meyer, Michelle N.; Pickrell, Joseph K.; Esko, Tõnu; Krueger, Robert F.; Beauchamp, Jonathan P.; Koellinger, Philipp D.; Benjamin, Daniel J.; Bartels, Meike; Cesarini, David (2016)
      We conducted genome-wide association studies of three phenotypes: subjective well-being (N = 298,420), depressive symptoms (N = 161,460), and neuroticism (N = 170,910). We identified three variants associated with subjective ...

    • Genetic variants in CETP increase risk of intracerebral hemorrhage 

      Anderson, Christopher D.; Falcone, Guido J.; Phuah, Chia‐Ling; Radmanesh, Farid; Brouwers, H. Bart; Battey, Thomas W. K.; Biffi, Alessandro; Peloso, Gina M.; Liu, Dajiang J.; Ayres, Alison M.; Goldstein, Joshua N.; Viswanathan, Anand; Greenberg, Steven M.; Selim, Magdy; Meschia, James F.; Brown, Devin L.; Worrall, Bradford B.; Silliman, Scott L.; Tirschwell, David L.; Flaherty, Matthew L.; Kraft, Peter; Jagiella, Jeremiasz M.; Schmidt, Helena; Hansen, Björn M.; Jimenez‐Conde, Jordi; Giralt‐Steinhauer, Eva; Elosua, Roberto; Cuadrado‐Godia, Elisa; Soriano, Carolina; van Nieuwenhuizen, Koen M.; Klijn, Catharina J. M.; Rannikmae, Kristiina; Samarasekera, Neshika; Salman, Rustam Al‐Shahi; Sudlow, Catherine L.; Deary, Ian J.; Morotti, Andrea; Pezzini, Alessandro; Pera, Joanna; Urbanik, Andrzej; Pichler, Alexander; Enzinger, Christian; Norrving, Bo; Montaner, Joan; Fernandez‐Cadenas, Israel; Delgado, Pilar; Roquer, Jaume; Lindgren, Arne; Slowik, Agnieszka; Schmidt, Reinhold; Kidwell, Chelsea S.; Kittner, Steven J.; Waddy, Salina P.; Langefeld, Carl D.; Abecasis, Goncalo; Willer, Cristen J.; Kathiresan, Sekar; Woo, Daniel; Rosand, Jonathan (John Wiley and Sons Inc., 2016)
      Objective: In observational epidemiologic studies, higher plasma high‐density lipoprotein cholesterol (HDL‐C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease ...

    • Genetic Variants in FGFR2 and FGFR4 Genes and Skin Cancer Risk in the Nurses' Health Study 

      Nan, Hongmei; Qureshi, Abrar A; Hunter, David J.; Han, Jiali (BioMed Central, 2009)
      Background: The human fibroblast growth factor (FGF) and its receptor (FGFR) play an important role in tumorigenesis. Deregulation of the FGFR2 gene has been identified in a number of cancer sites. Overexpression of the ...